Incidental Mutation 'R6731:Tox2'
| ID |
530049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tox2
|
| Ensembl Gene |
ENSMUSG00000074607 |
| Gene Name |
TOX high mobility group box family member 2 |
| Synonyms |
LOC269389, RxHMG1 |
| MMRRC Submission |
044849-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
163045047-163166092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 163162297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 354
(Y354C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099110]
[ENSMUST00000109428]
[ENSMUST00000165937]
|
| AlphaFold |
A2A472 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099110
AA Change: Y389C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: Y389C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
|
HMG
|
287 |
357 |
1.44e-18 |
SMART |
|
low complexity region
|
424 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109428
AA Change: Y347C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: Y347C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
HMG
|
245 |
315 |
1.44e-18 |
SMART |
|
low complexity region
|
382 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148599
|
| SMART Domains |
Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
136 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165937
AA Change: Y354C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: Y354C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
HMG
|
252 |
322 |
1.44e-18 |
SMART |
|
low complexity region
|
389 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
489 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
G |
A |
8: 124,619,956 (GRCm39) |
T128I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,988,926 (GRCm39) |
D3403E |
possibly damaging |
Het |
| Aldoc |
T |
A |
11: 78,216,918 (GRCm39) |
D319E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,849,858 (GRCm39) |
D1108E |
possibly damaging |
Het |
| Ankrd7 |
G |
A |
6: 18,866,653 (GRCm39) |
G58S |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,796 (GRCm39) |
Y359F |
probably damaging |
Het |
| B3gnt2 |
G |
T |
11: 22,786,888 (GRCm39) |
S100* |
probably null |
Het |
| Cd46 |
T |
C |
1: 194,765,775 (GRCm39) |
|
probably null |
Het |
| Chst5 |
G |
T |
8: 112,616,676 (GRCm39) |
R315S |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,200,030 (GRCm39) |
S393P |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,217,720 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
C |
3: 82,920,208 (GRCm39) |
F329S |
probably damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,537,769 (GRCm39) |
T179A |
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,599,099 (GRCm39) |
M559K |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,505,044 (GRCm39) |
I449T |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,830,367 (GRCm39) |
I1880N |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,443,629 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrch3 |
A |
G |
16: 32,770,790 (GRCm39) |
T131A |
probably damaging |
Het |
| Mroh6 |
T |
C |
15: 75,760,341 (GRCm39) |
T78A |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,363,294 (GRCm39) |
V326G |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,346 (GRCm39) |
Q6L |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,352,074 (GRCm39) |
I1863L |
probably damaging |
Het |
| Obi1 |
C |
T |
14: 104,716,910 (GRCm39) |
V488I |
probably benign |
Het |
| Os9 |
C |
T |
10: 126,934,412 (GRCm39) |
G408D |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,397,225 (GRCm39) |
S237P |
probably damaging |
Het |
| Pcdhb10 |
G |
A |
18: 37,546,529 (GRCm39) |
R535H |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,012,947 (GRCm39) |
I320K |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,258,318 (GRCm39) |
F101S |
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,285,200 (GRCm39) |
V534A |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,988,733 (GRCm39) |
D207E |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,477,764 (GRCm39) |
I460V |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,761,807 (GRCm39) |
Q1623H |
possibly damaging |
Het |
| Rpap1 |
T |
C |
2: 119,608,777 (GRCm39) |
N195S |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,418,149 (GRCm39) |
|
probably null |
Het |
| Scube2 |
G |
A |
7: 109,409,944 (GRCm39) |
T643M |
probably damaging |
Het |
| Sele |
C |
T |
1: 163,881,242 (GRCm39) |
L481F |
probably damaging |
Het |
| Stk32a |
A |
G |
18: 43,438,143 (GRCm39) |
Y214C |
probably damaging |
Het |
| Tex44 |
T |
A |
1: 86,354,207 (GRCm39) |
S39T |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,893,172 (GRCm39) |
M140K |
possibly damaging |
Het |
| Trim21 |
A |
T |
7: 102,208,419 (GRCm39) |
F433L |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,920,420 (GRCm39) |
F406L |
probably damaging |
Het |
| Ubr1 |
G |
C |
2: 120,786,121 (GRCm39) |
H166Q |
probably null |
Het |
| Wnt16 |
T |
A |
6: 22,297,891 (GRCm39) |
Y252* |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,138,924 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp729a |
C |
T |
13: 67,768,265 (GRCm39) |
V655I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,074 (GRCm39) |
V217E |
possibly damaging |
Het |
|
| Other mutations in Tox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Tox2
|
APN |
2 |
163,067,386 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01891:Tox2
|
APN |
2 |
163,164,903 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02190:Tox2
|
APN |
2 |
163,164,926 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02576:Tox2
|
APN |
2 |
163,118,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0881:Tox2
|
UTSW |
2 |
163,163,365 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1739:Tox2
|
UTSW |
2 |
163,089,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1742:Tox2
|
UTSW |
2 |
163,067,446 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1900:Tox2
|
UTSW |
2 |
163,118,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Tox2
|
UTSW |
2 |
163,067,476 (GRCm39) |
missense |
probably benign |
|
|
R2345:Tox2
|
UTSW |
2 |
163,161,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2842:Tox2
|
UTSW |
2 |
163,046,550 (GRCm39) |
intron |
probably benign |
|
|
R3753:Tox2
|
UTSW |
2 |
163,156,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Tox2
|
UTSW |
2 |
163,162,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4615:Tox2
|
UTSW |
2 |
163,162,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Tox2
|
UTSW |
2 |
163,162,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Tox2
|
UTSW |
2 |
163,162,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Tox2
|
UTSW |
2 |
163,156,336 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5410:Tox2
|
UTSW |
2 |
163,162,293 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5493:Tox2
|
UTSW |
2 |
163,046,649 (GRCm39) |
nonsense |
probably null |
|
|
R6965:Tox2
|
UTSW |
2 |
163,164,930 (GRCm39) |
makesense |
probably null |
|
|
R7038:Tox2
|
UTSW |
2 |
163,156,264 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7078:Tox2
|
UTSW |
2 |
163,162,501 (GRCm39) |
missense |
|
|
|
R7422:Tox2
|
UTSW |
2 |
163,163,435 (GRCm39) |
missense |
|
|
|
R7577:Tox2
|
UTSW |
2 |
163,157,822 (GRCm39) |
nonsense |
probably null |
|
|
R7829:Tox2
|
UTSW |
2 |
163,162,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Tox2
|
UTSW |
2 |
163,046,550 (GRCm39) |
missense |
unknown |
|
|
R8456:Tox2
|
UTSW |
2 |
163,046,550 (GRCm39) |
missense |
unknown |
|
|
R8754:Tox2
|
UTSW |
2 |
163,163,360 (GRCm39) |
missense |
|
|
|
R9085:Tox2
|
UTSW |
2 |
163,067,481 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9153:Tox2
|
UTSW |
2 |
163,045,091 (GRCm39) |
missense |
|
|
|
R9526:Tox2
|
UTSW |
2 |
163,164,930 (GRCm39) |
makesense |
probably null |
|
|
RF011:Tox2
|
UTSW |
2 |
163,067,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGTGACGTTGAGCCATC -3'
(R):5'- TAGTCCTGCTTACCTGTGGC -3'
Sequencing Primer
(F):5'- TTGAGCCATCCAGAGACCTTG -3'
(R):5'- ACCTGGAGTGCCATGGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation